Smabf1
The transmission pattern of SMABF1 in the families reported by Knierim et al. (2016) was consistent with autosomal recessive inheritance. Molecular Genetics In 5 patients from 3 unrelated families with spinal muscular atrophy with congenital bone fractures, Knierim et al. (2016) identified homozygous or compound heterozygous nonsense mutations ... WebbSMABF1; zinc finger, C2HC5-type; ZC2HC5; TRIP-4; thyroid receptor-interacting protein 4; MDCDC; HsT17391; ASC-1; ASC1; activating signal cointegrator 1; TR ...
Smabf1
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WebbMutations in this gene are associated with spinal muscular atrophy with congenital bone fractures-1 (SMABF1). [provided by RefSeq, Apr 2016] TRIP4 (thyroid hormone receptor interactor 4) - Rat Genome Database WebbSMABF1: Name: atrophy, muscular, spinal, with congenital bone fractures, type 1 (SMABF-1) OMIM ID: 616866: Human Phenotype Ontology Project (HPO) HPO: Inheritance: Autosomal recessive: Individuals reported having this disease: 2: Phenotype entries for this disease: 0: Associated with 1 gene: TRIP4: Associated tissues-
WebbRare diseases are not rare. About 30 million people in the U.S. are affected by a rare disease. As you and your caregivers adjust to a rare disease diagnosis, it is normal to be … WebbAffected infants have difficulty breathing and feeding and often die in the first days or months of life (summary by Knierim et al., 2016). For a discussion of genetic …
Webb14 maj 2024 · Spinal muscular atrophy with congenital bone fractures 1, 616866, Autosomal recessive; SMABF1 (TRIP4 gene) (Sequence Analysis-All Coding Exons) … WebbThis protein is localized in the nucleus and contains an E1A-type zinc finger domain, which mediates interaction with transcriptional coactivators and ligand-bound nuclear …
WebbAffected infants have difficulty breathing and feeding and often die in the first days or months of life (summary by Knierim et al., 2016). For a discussion of genetic heterogeneity of spinal muscular atrophy with congenital bone fractures, see SMABF1 (616866). (616867) (Updated 26-Feb-2024)
WebbOsztályozás. Az érintett izmok típusa alapján a gerinc izomsorvadásai a következőkre oszthatók: Proximális gerincizom -sorvadások, azaz olyan állapotok, amelyek elsősorban a proximális izmokat érintik ;; A gerinc disztális izomsorvadásai (amelyek jelentősen átfedik a disztális örökletes motoros neuronopathiákkal), ahol elsősorban a distalis izmokat érintik . highest rated hotels in kingmanWebbThis gene encodes a subunit of the tetrameric nuclear activating signal cointegrator 1 (ASC-1) complex, which associates with transcriptional coactivators, nuclear receptors … highest rated hotels in marin countyWebbMutations in this gene are associated with spinal muscular atrophy with congenital bone fractures-1 (SMABF1).,TRIP4,ASC-1,ASC1,HsT17391,MDCDC,SMABF1,ZC2HC5,Epigenetics & Nuclear Signaling,TRIP4 Molecular Weight 66kDa highest rated hotels in nycWebbSPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1 ORPHA: 486811; INHERITANCE - Autosomal recessive [SNOMEDCT: 258211005] [UMLS: … highest rated hot sauceWebb1 maj 1991 · SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1 (OMIM - 616866) Similar Articles . To arrive at the top five similar articles we use a word-weighted algorithm to compare words from the Title and Abstract of each citation. highest rated hotels in princeton wvWebbSMABF1; zinc finger, C2HC5-type; ZC2HC5; TRIP-4; thyroid receptor-interacting protein 4; MDCDC; HsT17391; ASC-1; ASC1; activating signal cointegrator 1; TR-interacting protein 4 Data sheet: View or download highest rated hotels in shenzhenhighest rated hot flash relief